Canonical Allele Identifier: CA1435013553
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs1737943147
gnomAD v3: 4-4862640-G-A
gnomAD v4: 4-4862640-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862640G>A , CM000666.2:g.4862640G>A GRCh38
NC_000004.11:g.4864367G>A , CM000666.1:g.4864367G>A GRCh37
NC_000004.10:g.4915268G>A NCBI36
NG_008121.1:g.7976G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382723.5:c.470-61G>A MANE Select ENSP00000372170.4:n.470-61G>A
ENST00000382723.4:c.470-61G>A ENSP00000372170.4:n.470-61G>A
ENST00000468421.1:n.181+32G>A
NM_002448.3:c.470-61G>A MANE Select NP_002439.2:n.470-61G>A